Protein level identifier (NP_113606):
p.Tyr847Cys
cDNA level identifier (NM_031418):
c.2540A>G
Gene level identifier:
g.458539A>G
Reference, alternative allele:
A, G
Genomic location hg(19)
11:26669367 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).